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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
alpha-methylacyl-CoA racemase deficiency  
Apolipoprotein A-I, Deficiency of +   
APOLIPOPROTEIN A-II DEFICIENCY  
Apolipoprotein E, Deficiency or Defect of +   
aspartylglucosaminuria  
Barth syndrome +   
beta-mannosidosis  
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis  
chylomicron retention disease  
Congenital Lp(A) Deficiency  
cystinosis +   
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
D-bifunctional protein deficiency  
Danon disease  
Desmosterolosis  
Dyslipidemias +   
familial combined hyperlipidemia +   
familial hyperlipidemia +   
galactosialidosis  
Glutamyl Ribose-5-Phosphate Storage Disease 
Glycosylphosphatidylinositol Deficiency +   
Hepatic Lipase Deficiency  
hyperlipoproteinemia type IV  
Hypertriglyceridemia, Transient Infantile  
hypolipoproteinemia +   
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
lipid storage disease +   
Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.
lipodystrophy +   
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency 
Lysosomal Storage Diseases, Nervous System +   
Mannosidase Deficiency Diseases +   
medium chain acyl-CoA dehydrogenase deficiency  
MEND Syndrome  
mucopolysaccharidosis +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myopathy with Abnormal Lipid Metabolism  
neutral lipid storage disease +   
Pancreatic Lipase Deficiency  
peroxisomal acyl-CoA oxidase deficiency  
PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER  
Phospholipase A2, Group IVA, Deficiency of  
pycnodysostosis  
Refsum disease +   
Schindler Disease, Type I  
short chain acyl-CoA dehydrogenase deficiency  
sitosterolemia +   
Smith-Lemli-Opitz syndrome +   
steroid inherited metabolic disorder +   
syndromic X-linked intellectual disability type 10  
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
Vacuolar Myopathy  
very long chain acyl-CoA dehydrogenase deficiency  
xanthomatosis +   

Synonyms
Exact Synonyms: Lipidoses ;   Lipidosis ;   Lipoid storage diseas ;   Lipoidosis ;   inborn lipid storage disorder
Primary IDs: MESH:D008064 ;   RDO:0006014
Xrefs: ICD10CM:E75.6 ;   ICD9CM:272.7 ;   ICD9CM:272.8
Definition Sources: MESH:D008064, http://en.wikipedia.org/wiki/Lipidoses

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.